ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2382C>T (p.Ser794=) (rs56225585)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035329 SCV000058977 benign not specified 2011-03-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035329 SCV000303013 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309375 SCV000432899 benign Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363883 SCV000432900 benign Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000473408 SCV000557609 benign Alagille syndrome 1 2017-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621245 SCV000735233 benign Cardiovascular phenotype 2015-08-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.